The sodium-phosphate co-transporter SLC34A2, and pulmonary alveolar microlithiasis: Presentation of an inbred family and a novel truncating mutation in exon 3

Marco Favio Michele Vismara; Emma Colao; Fernanda Fabiani; Francesco Bombardiere; Oscar Tamburrini; Caterina Alessio; Francesco Manti; Gerolamo Pelaia; Pasquale Romeo; Rodolfo Iuliano; Nicola Perrotti

doi:10.1016/j.rmcr.2015.08.002

The sodium-phosphate co-transporter SLC34A2, and pulmonary alveolar microlithiasis: Presentation of an inbred family and a novel truncating mutation in exon 3

Respir Med Case Rep. 2015 Aug 12:16:77-80. doi: 10.1016/j.rmcr.2015.08.002. eCollection 2015.

Affiliations

¹ Medical Genetics Residency Program TorVergata University of Rome, Italy; Medical Genetics Unit, Mater Domini University Hospital, Catanzaro, Italy; Molecular Medicine Department, Sapienza University of Rome, Italy.
² Medical Genetics Unit, Mater Domini University Hospital, Catanzaro, Italy.
³ Medical Genetics Residency Program TorVergata University of Rome, Italy; Medical Genetics Unit, Mater Domini University Hospital, Catanzaro, Italy.
⁴ Radiology Unit, Clinical and Experimental Medicine Department, Magna Graecia University of Catanzaro, Italy.
⁵ Pneumology Unit, Medical and Surgical Sciences Department, Magna Graecia University of Catanzaro, Italy.
⁶ Medical Genetics Unit, Clinical and Experimental Medicine Department, Magna Graecia University of Catanzaro, Italy.
⁷ Medical Genetics Unit, Health Sciences Department, Magna Graecia University of Catanzaro, Italy.

Abstract

Pulmonary alveolar microlithiasis is a disorder in which many tiny fragments (microliths) of calcium phosphate gradually accumulate in alveoli. Loss of function mutations in the gene SLC34A2 coding for the sodium phosphate co-transporter (NaPi-IIb) are responsible for genetic forms of alveolar microlithiasis. We now report a consanguineous Italian family from Calabria with two affected members segregating alveolar microlithiasis in a recessive fashion. We describe, for the first time, a novel loss of function mutation in the gene coding for NaPi-IIb. A careful description of the clinical phenotype is provided together with technical details for direct sequencing of the gene.

Keywords: AD, Autosomic dominant; AR, Autosomic recessive; CH, Compound heterozygous; Hsa, Homo sapiens; NaPi-IIb; OMIM, Online Mendelian inheritance in man; PAM, Pulmonar alveolar microlithiasis; PAS, Periodic acid-Schiff; Pulmonary alveolar microlithiasis; SLC34A2.

Publication types

Case Reports